RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO)
Synonyms:
exact_synonym:
BAMLAZ; Bamforth syndrome; Hypothyroidism cleft palate; athyroidal hypothyroidism with spiky hair and cleft palate; hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate; thyroidal hypothyroidism with spiky hair and cleft palate